mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for PFKFB3
Gene summary
Basic gene Info.Gene symbolPFKFB3
Gene name6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
CytomapUCSC genome browser: 10p15.1
Type of geneprotein-coding
Description6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 36PF-2-K/Fru-2,6-P2ase 36PF-2-K/Fru-2,6-P2ase brain/placenta-type isozymePFK/FBPase 3fruct
Modification date20141207
dbXrefs MIM : 605319
Ensembl : ENSG00000170525
HPRD : 05612
Vega : OTTHUMG00000017621
ProteinUniProt: Q16875
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PFKFB3
BioGPS: 5209
PathwayNCI Pathway Interaction Database: PFKFB3
Pathway Commons: PFKFB3
ContextiHOP: PFKFB3
ligand binding site mutation search in PubMed: PFKFB3
UCL Cancer Institute: PFKFB3
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for PFKFB3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for PFKFB3
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for PFKFB3 from PDB

Differential gene expression and gene-gene network for PFKFB3
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of PFKFB3 and the right PPI network was created from samples without mutations in the LBS of PFKFB3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for PFKFB3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0028754Obesity2Biomarker, GeneticVariation
umls:C0311375Arsenic Poisoning1Biomarker
umls:C0151744Myocardial Ischemia1Biomarker
umls:C0037274Skin Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for PFKFB3
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PFKFB3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of PFKFB3
Multiple alignments for Q16875 in multiple species
LBSAA sequence# speciesSpecies
A126IAVFDATNTTR2Homo sapiens, Rattus norvegicus
A126VAIFDATNTTK1Caenorhabditis elegans
A45MVGLPARGKTY3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
C155FIESVCDDPTV2Homo sapiens, Rattus norvegicus
C155FIESVCDDPAI1Caenorhabditis elegans
C206LDPDKCDRDLS2Homo sapiens, Rattus norvegicus
C206LDESE-DESLS1Caenorhabditis elegans
E167ASNIMEVKISS2Homo sapiens, Rattus norvegicus
E167DCNVTDVKVNS1Caenorhabditis elegans
E323WKALNEIDAGV2Homo sapiens, Rattus norvegicus
E323WKALDELDAGI1Caenorhabditis elegans
F187-AMDDFMKRIS1Homo sapiens
F187QAKEDFMNRIE1Caenorhabditis elegans
F187-AMDDFMKRIN1Rattus norvegicus
F222DVGRRFLVNRV2Homo sapiens, Rattus norvegicus
F222NAGRSFKVHQV1Caenorhabditis elegans
F88SSYNFFRPDNE2Homo sapiens, Rattus norvegicus
F88ANASFFSPNNA1Caenorhabditis elegans
G219KVIDVGRRFLV2Homo sapiens, Rattus norvegicus
G219KVINAGRSFKV1Caenorhabditis elegans
G266LQGRIGGDSGL1Homo sapiens
G266AMGRLGGDSPL1Caenorhabditis elegans
G266VQGKIGGDSGL1Rattus norvegicus
G47GLPARGKTYIS3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
G72KVFNVGEYRRE2Homo sapiens, Rattus norvegicus
G72KVFNVGEYRRS1Caenorhabditis elegans
H243YLMNIHVQPRT2Homo sapiens, Rattus norvegicus
H243FLMNIHLLPRS1Caenorhabditis elegans
H254IYLCRHGENEH1Homo sapiens
H254IYLTRHGQSEY1Caenorhabditis elegans
H254IYLCRHGENEY1Rattus norvegicus
H388VLVICHQAVLR2Homo sapiens, Rattus norvegicus
H388VLVVSHQAVLR1Caenorhabditis elegans
I165VVASNIMEVKI2Homo sapiens, Rattus norvegicus
I165IIDCNVTDVKV1Caenorhabditis elegans
I242YYLMNIHVQPR2Homo sapiens, Rattus norvegicus
I242YFLMNIHLLPR1Caenorhabditis elegans
I265NLQGRIGGDSG1Homo sapiens
I265NAMGRLGGDSP1Caenorhabditis elegans
I265NVQGKIGGDSG1Rattus norvegicus
I51RGKTYISKKLT2Homo sapiens, Rattus norvegicus
I51RGKTYISKKLC1Caenorhabditis elegans
K169NIMEVKISSPD2Homo sapiens, Rattus norvegicus
K169NVTDVKVNSPD1Caenorhabditis elegans
K205PLDPDKCDRDL2Homo sapiens, Rattus norvegicus
K205PLDESE-DESL1Caenorhabditis elegans
K352LREQDKYYYRY2Homo sapiens, Rattus norvegicus
K352DRATDKYHYRY1Caenorhabditis elegans
K48LPARGKTYISK3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
L239RIVYYLMNIHV2Homo sapiens, Rattus norvegicus
L239RVVYFLMNIHL1Caenorhabditis elegans
M240IVYYLMNIHVQ2Homo sapiens, Rattus norvegicus
M240VVYFLMNIHLL1Caenorhabditis elegans
N128VFDATNTTRER2Homo sapiens, Rattus norvegicus
N128IFDATNTTKDR1Caenorhabditis elegans
N164TVVASNIMEVK2Homo sapiens, Rattus norvegicus
N164AIIDCNVTDVK1Caenorhabditis elegans
N257CRHGENEHNLQ1Homo sapiens
N257TRHGQSEYNAM1Caenorhabditis elegans
N257CRHGENEYNVQ1Rattus norvegicus
N260GENEHNLQGRI1Homo sapiens
N260GQSEYNAMGRL1Caenorhabditis elegans
N260GENEYNVQGKI1Rattus norvegicus
N70PTKVFNVGEYR2Homo sapiens, Rattus norvegicus
N70TTKVFNVGEYR1Caenorhabditis elegans
P44VMVGLPARGKT3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
Q199YEASYQPLDPD2Homo sapiens, Rattus norvegicus
Q199YKKQYEPLDES1Caenorhabditis elegans
Q389LVICHQAVLRC2Homo sapiens, Rattus norvegicus
Q389LVVSHQAVLRC1Caenorhabditis elegans
R131ATNTTRERRHM2Homo sapiens, Rattus norvegicus
R131ATNTTKDRRRI1Caenorhabditis elegans
R133NTTRERRHMIL2Homo sapiens, Rattus norvegicus
R133NTTKDRRRIII1Caenorhabditis elegans
R190DDFMKRISCYE1Homo sapiens
R190EDFMNRIENYK1Caenorhabditis elegans
R190DDFMKRINCYE1Rattus norvegicus
R253TIYLCRHGENE2Homo sapiens, Rattus norvegicus
R253SIYLTRHGQSE1Caenorhabditis elegans
R348EEYALREQDKY2Homo sapiens, Rattus norvegicus
R348KQADDRATDKY1Caenorhabditis elegans
R393HQAVLRCLLAY2Homo sapiens, Rattus norvegicus
R393HQAVLRCVLAY1Caenorhabditis elegans
R46VGLPARGKTYI3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
R75NVGEYRREAVK2Homo sapiens, Rattus norvegicus
R75NVGEYRRSDAN1Caenorhabditis elegans
R76VGEYRREAVK-2Homo sapiens, Rattus norvegicus
R76VGEYRRSDANA1Caenorhabditis elegans
R99EAMKVRKQCAL1Homo sapiens
R99DALKVRAESAR1Caenorhabditis elegans
R99EAMRVRKQCAL1Rattus norvegicus
S153AFFIESVCDDP2Homo sapiens, Rattus norvegicus
S153CFFIESVCDDP1Caenorhabditis elegans
S163PTVVASNIMEV2Homo sapiens, Rattus norvegicus
S163PAIIDCNVTDV1Caenorhabditis elegans
T127AVFDATNTTRE2Homo sapiens, Rattus norvegicus
T127AIFDATNTTKD1Caenorhabditis elegans
T441VESVCTHRERS1Homo sapiens
T441LES----GEWT1Caenorhabditis elegans
T441VESVSTHRERS1Rattus norvegicus
T49PARGKTYISKK3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
V160CDDPTVVASNI2Homo sapiens, Rattus norvegicus
V160CDDPAIIDCNV1Caenorhabditis elegans
V168SNIMEVKISSP2Homo sapiens, Rattus norvegicus
V168CNVTDVKVNSP1Caenorhabditis elegans
V215LSLIKVIDVGR1Homo sapiens
V215LSFIKVINAGR1Caenorhabditis elegans
V215LSFIKVIDVGR1Rattus norvegicus
V218IKVIDVGRRFL2Homo sapiens, Rattus norvegicus
V218IKVINAGRSFK1Caenorhabditis elegans
V244LMNIHVQPRTI2Homo sapiens, Rattus norvegicus
V244LMNIHLLPRSI1Caenorhabditis elegans
V71TKVFNVGEYRR3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
Y194KRISCYEASYQ1Homo sapiens
Y194NRIENYKKQYE1Caenorhabditis elegans
Y194KRINCYEASYQ1Rattus norvegicus
Y334CEELTYEEIRD2Homo sapiens, Rattus norvegicus
Y334CEGLTYEDILQ1Caenorhabditis elegans
Y363PTGESYQDLVQ2Homo sapiens, Rattus norvegicus
Y363PSGESYEDVVS1Caenorhabditis elegans
Y425LTPVAYGCRVE2Homo sapiens, Rattus norvegicus
Y425LTPRAYHCDST1Caenorhabditis elegans
Y50ARGKTYISKKL3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus

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